AutismKB 2.0

Annotation Detail for FBN2


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Basic Information Top
Gene Symbol:FBN2 ( CCA,DA9 )
Gene Full Name: fibrillin 2
Band: 5q23.3
Quick LinksEntrez ID:2201; OMIM: 612570; Uniprot ID:FBN2_HUMAN; ENSEMBL ID: ENSG00000138829; HGNC ID: 3604
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1801Intracranial aneurysm
1824Bone disease
Desease Name
obesity (extreme)
congenital contractural arachnodactyly
METABOLIC
DEVELOPMENTAL
Desease Name
Obesity (extreme)
Desease Name
Contractural arachnodactyly, congenital
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in decreased expression of FBN2 mRNAdecreases expression 20406850
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of FBN2 proteinaffects expression 20106945
C459604 candoxin candoxin results in decreased expression of FBN2 mRNAdecreases expression 16309724
D003345 Corticosterone Corticosterone results in increased expression of FBN2 mRNAincreases expression 15755911
D003907 Dexamethasone [Dexamethasone co-treated with rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of FBN2 mRNAaffects cotreatment|decreases expression 16054899
D003907 Dexamethasone Tetrachlorodibenzodioxin inhibits the reaction [[Dexamethasone co-treated with rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of FBN2 mRNA]affects cotreatment|decreases expression|decreases reaction 16054899
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of FBN2 mRNAdecreases expression 15834898
17557909
D015056 1-Methyl-3-isobutylxanthine [Dexamethasone co-treated with rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of FBN2 mRNAaffects cotreatment|decreases expression 16054899
D015056 1-Methyl-3-isobutylxanthine Tetrachlorodibenzodioxin inhibits the reaction [[Dexamethasone co-treated with rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of FBN2 mRNA]affects cotreatment|decreases expression|decreases reaction 16054899
C011890 kojic acid kojic acid results in increased expression of FBN2 mRNAincreases expression 16595896
C076994 perfluorooctane sulfonic acid perfluorooctane sulfonic acid results in decreased expression of FBN2 mRNAdecreases expression 17560707
C025299 polyphenols polyphenols results in decreased expression of FBN2 mRNAdecreases expression 16293270
C089730 rosiglitazone [Dexamethasone co-treated with rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of FBN2 mRNAaffects cotreatment|decreases expression 16054899
C089730 rosiglitazone Tetrachlorodibenzodioxin inhibits the reaction [[Dexamethasone co-treated with rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of FBN2 mRNA]affects cotreatment|decreases expression|decreases reaction 16054899
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin inhibits the reaction [[Dexamethasone co-treated with rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of FBN2 mRNA]affects cotreatment|decreases expression|decreases reaction 16054899
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0011752688 15322242 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1217505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8314692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.5316835633
MESH:D000544 Alzheimer Disease rosiglitazone 2.8719621015
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0511748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6011256880
MESH:D001169 Arthritis, Experimental Dexamethasone 7.5917659584
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 7.5915885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8315746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.7020435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8916835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.0816705839
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 3.0812619106 21507988 12907637
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4216120746 18850075 18670907
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.846135515
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2616835633
MESH:D002779 Cholestasis Ethinyl Estradiol 2.9516105132 17681005 17333356 16919318 15861022 11677210 17110522
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.148697196 12621046 15340226 16354765 15668235
MESH:D003110 Colonic Neoplasms Dexamethasone 4.1515824018
MESH:D003110 Colonic Neoplasms polyphenols 4.1516293270
MESH:D015179 Colorectal Neoplasms marker/mechanism 21278247
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1614669216 17141729
OMIM:121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL marker/mechanism
MESH:D019465 Craniofacial Abnormalities Dexamethasone 2.6417728286
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.6410048152 15322242 20055451
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.1618551238
MESH:D017449 Dermatitis, Allergic Contact Dexamethasone 3.5412438553
MESH:D003920 Diabetes Mellitus rosiglitazone 4.4017446233
MESH:D003924 Diabetes Mellitus, Type 2 rosiglitazone 4.5812642470
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.5817107852
MESH:D003967 Diarrhea Dexamethasone 3.827237001
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.4418551238 21346803
MESH:D056486 Drug-Induced Liver Injury polyphenols 6.4419370779
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.4420420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8411462148
MESH:D004485 Eczema Dexamethasone 4.5912438553
MESH:D004487 Edema Dexamethasone 12.2419703484
MESH:D004487 Edema rosiglitazone 12.2412083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 12.2411000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0816714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3112538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1210568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0911564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.3415345470
MESH:D005234 Fatty Liver rosiglitazone 8.3419196556
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5911858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.0920067830
MESH:D005909 Glioblastoma perfluorooctane sulfonic acid 4.3317162496
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3810048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4411000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0315340226 16120746 12621046
MESH:D006548 Hernia, Diaphragmatic Dexamethasone 3.107520565
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2216959395 15340226 18606429 8697196 16354765
MESH:D006930 Hyperalgesia rosiglitazone 4.0012083418
MESH:D006973 Hypertension Dexamethasone 5.3817042910
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3818850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9516569931 16945680
MESH:D007077 Ileal Diseases 1-Methyl-3-isobutylxanthine 5.6218306037
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5617937319
MESH:D007249 Inflammation Dexamethasone 12.5011099482 8960868
MESH:D007249 Inflammation polyphenols 12.5016366677
MESH:D007249 Inflammation rosiglitazone 12.5012083418
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 12.5012878042 12200463
MESH:D007333 Insulin Resistance rosiglitazone 3.8716306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4416580747
MESH:D007579 Jejunal Diseases 1-Methyl-3-isobutylxanthine 5.6218306037
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.0716705839
MESH:D008106 Liver Cirrhosis, Experimental Dexamethasone 3.6816718785
MESH:D008106 Liver Cirrhosis, Experimental rosiglitazone 3.6817347453 15980055
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.6812878042
MESH:D008107 Liver Diseases polyphenols 2.8016698588
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.627678174
MESH:D008113 Liver Neoplasms Aflatoxin B1 7.629163691 15890375 18177683 2125692
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.6216984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 14.706135515 2876786 2876784
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 14.708603461
MESH:D008114 Liver Neoplasms, Experimental kojic acid 14.7018544905
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 14.7012151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 3.5214755239
MESH:D008175 Lung Neoplasms Dexamethasone 3.5211195469 15824018
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5211884234 19555203
MESH:D008325 Mammary Neoplasms, Experimental Corticosterone 6.8712807724
MESH:D008325 Mammary Neoplasms, Experimental rosiglitazone 6.8716827153
MESH:D024821 Metabolic Syndrome X rosiglitazone 4.4717261469
MESH:D009101 Multiple Myeloma Dexamethasone 3.5815867202 16118317 15744524
MESH:D009190 Myelodysplastic Syndromes Dexamethasone 3.609809623
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1112213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.017678174 18551238
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3414600291
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.5316049721
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8011578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6918163543
MESH:D054198 Precursor Cell Lymphoblastic Leukemia-Lymphoma Dexamethasone 3.6021297632
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3411399792 11118676 11222880 11896295
MESH:D011537 Pruritus Ethinyl Estradiol 3.4716919318 15861022
MESH:D012128 Respiratory Distress Syndrome, Adult Dexamethasone 4.1318379247 11700416
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9618990726
MESH:D012640 Seizures 2,6-dinitrotoluene 2.6118551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0916192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1216709447
MESH:D013272 Stomach Diseases Dexamethasone 4.4715472012
MESH:D013276 Stomach Ulcer Dexamethasone 3.5915138204
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.4317997062
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2515669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0812697716
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.3316049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.4710091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4214692618
MESH:D014605 Uveitis Dexamethasone 4.991336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6515869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4215886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA28017
    • Releated gene ID Related gene Name
    PA164722334MIR101-1
    PA164722335MIR101-2
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    No data
    Drug Bank Top

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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